Term Name: | Weill-Marchesani syndrome |
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Synonyms: | congenital mesodermal dystrophy, GEMSS syndrome, Marchesani-Weill Syndrome, Mesodermal Dysmorphodystrophy, Congenital, Spherophakia Brachymorphia Syndrome |
Definition: | A syndrome characterized by short stature, brachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities. |
Ontology: | Human Disease [DOID:0050475] ( DOID:0050475 ) |